Rare Without Borders: Interview with a Greek Family Battling Batten Disease
Rare Disease Report had the privilege of interviewing one of our followers, Christina Bouraimi living in Greece, about her son’s rare condition. Theodore has a form of Batten disease that has greatly impacted his cognitive and physical abilities. Christina offers an inside look at the daily life as a caregiver for someone with Batten disease and provides some hope for other Batten parents.
When did you begin to suspect Theodore had a rare disease and what were the early symptoms?
When Theodore was six years old I noticed that he was strangely frightened, closed to himself unwilling to go to school, he was approaching the television very closely, and he was not recognizing members of the family. For example, he was hugging his father, but his intention was to hug me. We were concerned with a lot of his behavior and suspected that something was wrong with his sight.
We visited many ophthalmologists, and the diagnostic opinions were very different among the doctors. The diagnostic variances ranged from nothing is wrong to your child is nearly blind. After three months of intensive search and his sight worsening day after day, one of the ophthalmologists suggested we go abroad, specifically to London, to the Great Ormond Street Hospital for Children NHS Trust. Until our visitation to London we could not imagine that Theodore was suffering from a rare disease. We were very anxious for his health. Every second our life was turning from a fairytale to a nightmare.
How long did it take to get a diagnosis of Batten disease and how did the diagnosis come about?
The travel to London took place immediately after the advice, three months after our first suspicions. There we met a great pediatric ophthalmologist, Dr. David Taylor. It was January 2001. After Theodore’s examination he took blood from him in order to do genetic laboratory tests. The results were sent to the doctor who gave us the trip advice by fax two months later. It was April, Easter for the Orthodox Church, when the results arrived to Greece. The doctor here preferred not to announce the horrible news until the end of holidays because she did not want to hurt our feelings during this great celebration. Until then we were in agony and constantly asking her what the test had shown.
I was praying every day to Lord for the results to be negative. After the holidays she called us to her medical office and she announced that Theodore was suffering from an extremely rare disease, Batten Disease. This is an inherited, degenerative, neurological disease which affects children and it is fatal. This sounded to our ears like the end of the world. But my husband and I decided not to give up and try to find a cure.
We searched for other families with the same problem as us here in Greece, but it seemed that we were the only one. Since then we have traveled many times to Germany, one time to Finland, and we sent genetic material from Theodore, my husband, and myself to Massachusetts General Hospital. All the examinations showed the same result. Theodore has Batten disease CNL3. Our feelings ranged from hope to despair.
There are many types of Batten disease. Which one does Theodore have and how is he progressing given the diagnosis?
Batten disease is divided to ten types:
- Infantile Neuronal Ceroid (INCL): CLN1
- Late Infantile NCL (LINCL): CLN2
- Juvenile NCL (JNCL) : CLN3
- Adult NCL: CLN4
- Finnish Variant of Late Infantile NCL (fLINCL): CLN5
- Variant of the Late-Infantile NCL: CLN6
- Turkish Variant of Late Infantile NCL: CLN7
- Northern Epilepsy: CLN8
- Late Infantile NCL: CLN10
- Infantile Osteopetrosis: CNLC7
The main differences among them is the age of appearance of the first symptoms, the different order of appearance of the symptoms, and the age of death. Generally, they have similar symptoms and they all lead to early death without exception.
Theodore has the CLN3 or Juvenile type (JNCL). Typically, the first symptom is the gradual loss of vision followed by seizures, which were getting worse over time. Changes in personality and behavior happen soon as well as learning regression and echolalia (repeating speech), clumsiness, stumbling on environmental objects and poor circulation in the legs. Other symptoms are hyperventilation and breath holding spells, curvature of the spine, teeth grinding and constipation. Mental impairment leads to dementia, the muscles of the body lose their tone and mass and motor skills gradually disappear.
Over time constant seizures and total blindness take place. The affected child loses ability to walk, talk, swallow (eat and drink), breathe and ends up bedridden, with technical support for breathing, eating, and drinking. Early death is coomon. There is no cure and the treatment is supportive and symptomatically focused.
Of all the symptoms Theodore currently exhibits blindness, seizures, myoclonuses and light dysarthria. He has an aggressive attitude, frequent nightmares, disturbances in his sleeping patterns and teeth grinding. For his age he has few symptoms. Although, some of them are severe. Unfortunately, according to the absolute prognosis, most of the severe symptoms mentioned above will surely follow.
How is Theodore today?
Theodore is 22 years old. He has lost his sight and he has only light perception. In 2004 he had epileptic seizures, something that was expected because of the alterations on his electroencephalogram (EEG). Myoclonuses followed and became routine every day. Then we started valproic acid, which is an antiepileptic drug, and now we are free of both of seizures and myoclonuses, but his treatment with the medicine has not stopped for a day.
He is also receiving high doses of vitamin E and Q10 and his diet is low-fat because the disease is causes the inability of neurons to discard fat metabolites. His behavior is relatively normal now, sleeping patterns have been normalized, nightmares are rare and he does not grind his teeth. His motor skills are good and he can swallow normally. He has plenty of activities and he seems quite happy.
Describe a day in the life of Theodore.
It is important that Theodore’s every day is scheduled because of the nature of the disease, following doctors’ advice. He usually wakes up at ten o’ clock in the morning. He takes his breakfast listening to his favorite radio station, specialized in football and music, from his laptop which has a special reading program for persons with visual problems. At eleven o’ clock he takes private English lessons. At twelve o’ clock attends lessons to the Agriculture University of Athens accompanied by a special teacher except on the weekends.
He returns home around three o’clock and he has his lunch. Then one of his specialized trainers takes over and stays with him until the evening. Together they play PlayStation with the guide of the trainer, they bet in football and basketball with minimal accounts (1 euro) because he likes receiving and analyzing information for all the football and basketball teams around the world. They lift light weights, perform physical exercises and play football. Early in the evening he likes to go to a cafe with his trainers whom he considers as close friends and they meet other young people working there and frequenters.
Some days he likes to go with the family to theatrical plays and football or basketball games. In all of these activities we, the parents, are participating actively as much we can. Although we are both working many hours because the state is not supporting any of above. Plus, the economic crisis here in Greece seriously damaged our income. Theodore usually sleeps late in the night because he loves to spend time with me, listening to the radio, and talking about everything with me.
Something that fills all the days of Theodore is music. He adores music, especially Greek folk and traditional music. Often, we dance in home to the sounds of this music.
How much time is devoted to managing his condition?
24 hours per day, 7 days per week. All our life is focused on Theodore and raising awareness.
What is being done to slow down the progression of the disease?
The medication (valproic acid, high dose of Q10 and vitamin E) and all the activities of Theodore’s day are adjusted to slow down the progression of the disease. Physical exercises are for muscle and peripheral nervous system maintenance and the English lessons and playing games (PlayStation and betting – managing information) aim to avoid dementia as long as we can. Frequent medical examinations help us adjust Theodore’s diet and lifestyle because it is critical.
Social activities such as university classes, theater plays and athletic events help Theodore to balance his emotional, mental and social condition. His diet is what doctors call Mediterranean because is low-fat.
I would like to express my feelings for some of the doctors here in Greece. They honor their science and are by our side without any material gain. I am grateful that they are in our lives.
Any advice for other Batten disease families, especially those living in areas where Batten disease is not well known?
Love, Faith, Hope are the only thing people need for all difficulties in life. Children understand the love of the parents and they seek out this love. As Saint Augustine said “Love, and do what thou wilt.” A parent can always find what is best for his or her child. Faith is essential too. Faith in God, yourself and, of course, in your child. Theodore taught me that. He never lost his faith and never let us lose it either. Hope for everything good, even if the strikes come one after the other. Never give up hope.
Leonidas fought till the end with his Spartans even though they knew they would die. Finally, via social networks, parents can achieve communication with other people in difficult circumstances similar to theirs and share experiences and emotions. This is very important; it is like finding a new family. It is a deliverance.
They can also be in touch with great scientists who can lead them to helpful solutions, or even experimental therapies conducted to countries with more advanced scientific laboratories. These friends and specialists can be found around the globe using internet and social media. Families are no longer alone. Support has not borders.
Can you explain what ‘Life Like a Fairy Tale’ means?
Our life started like a fairytale, happiness was in our family. After some year fate started to fight us furiously. But fairytales have happy endings. Hope is the cause of belief in fairytales. We will hope until the end. Hope for a CURE!
Special thanks for Christina for taking the time to share her story.